Frequency of Gene Polymorphisms in Admixed Venezuelan Women with Recurrent Pregnancy Loss: Microsomal Epoxy Hydroxylase (rs1051740) and Enos (rs1799983).

Recurrent pregnancy loss (RPL) affects around 2% of women of reproductive age. Primary RPL is defined by ≥2 pregnancy losses and no normal birth delivery. In secondary RPL, the losses are after a normal pregnancy and delivery. Most cases have no clear aetiology, although primary cases are the most complex. Several gene single nucleotide polymorphisms (SNPs) have been associated with RPL. The frequency of some SNPs is increased in women suffering from RLP from Asian or Caucasian races; however, in admixed populations, the information on possible genetic links is scarce and contradictory. This study aimed to assess the frequency of two SNPs present in two different enzymes involved in medical conditions observed during pregnancy. It is a case-control study. Microsomal epoxy hydrolase (mEPH) is involved in detoxifying xenobiotics, is present in the ovaries, and is hormonally regulated. The endothelial nitric oxide synthase (NOS3) that forms nitric is involved in vascular tone. Two SNPs, rs1051740 (mEPH) and rs1799983 (NOS3), were assessed. The study included 50 controls and 63 primary RPL patients. The frequency of mutated alleles in both SNPs was significantly higher in patients (p < 0.05). Double-mutated homozygotes were encountered only in RPL patients (p < 0.05). Genetic polymorphisms rs1051740 and rs1799983 may be involved in primary RPL in the Venezuelan admix population. Genetic studies could provide crucial information on the aetiology of primary RPL.

Effect of HVEM/CD160 Variations on the Clear Cell Renal Carcinoma Risk and Overall Survival.

Renal cell carcinoma (RCC) accounts for approximately 90-95% of all kidney cancers in adults, with clear cell RCC (ccRCC) being the most frequently identified subtype. RCC is known for its responsiveness to immunotherapy, making it an area of significant research interest. Immune checkpoint (IC) molecules, which regulate immune surveillance, are established therapeutic targets in RCC. The aim of this study was to analyze the influence of HVEM and CD160 gene polymorphisms on ccRCC susceptibility and patient overall survival (OS) over a ten-year period of observation. We genotyped three HVEM single nucleotide polymorphisms (SNPs): rs1886730, rs2234167, and rs8725, as well as two CD160 SNPs: rs744877 and rs2231375, in 238 ccRCC patients and 521 controls. Our findings indicated that heterozygosity within rs2231375 and/or rs2234167 increases ccRCC risk. Furthermore, in women, heterozygosity within HVEM SNPs rs8725 and rs1886730 is also associated with an increased ccRCC risk. The presence of a minor allele for rs1886730, rs2234167, rs8725, and rs2231375 was also correlated with certain clinical features of ccRCC. Moreover, rs1886730 was found to be associated with OS. In conclusion, our study highlights an association between HVEM and CD160 polymorphisms and the risk of developing ccRCC as well as OS.

The Variations' in Genes Encoding TIM-3 and Its Ligand, Galectin-9, Influence on ccRCC Risk and Prognosis.

Renal cell cancer is the most common type of kidney cancer in adults, and clear cell renal cell carcinoma (ccRCC) is the most diagnosed type. T cell immunoglobulin and mucin-domain-containing-3 (TIM-3) belongs to immunological checkpoints that are key regulators of the immune response. One of the known TIM-3 ligands is galectin-9 (LGALS9). A limited number of studies have shown an association between TIM-3 polymorphisms and cancer risk in the Asian population; however, there is no study on the role of LGALS9 polymorphisms in cancer. The present study aimed to analyze the influence of TIM-3 and LGALS9 polymorphisms on susceptibility to ccRCC and patient overall survival (OS), with over ten years of observations. Using TaqMan probes, ARMS-PCR, and RFPL-PCR, we genotyped two TIM-3 single-nucleotide polymorphisms (SNPs): rs1036199 and rs10057302, and four LGALS9 SNPs: rs361497, rs3751093, rs4239242, and rs4794976. We found that the presence of the rs10057302 A allele (AC + AA genotypes) as well as the rs4794976 T allele (GT + TT genotypes) decreased susceptibility to ccRCC by two-fold compared to corresponding homozygotes. A subgroup analysis showed the association of some SNPs with clinical features. Moreover, TIM-3 rs1036199 significantly influenced OS. Our results indicate that variations within TIM-3 and LGALS9 genes are associated with ccRCC risk and OS.

Bioethical problems arising in the study of single-nucleotide gene polymorphisms of occupational diseases.

In Ukraine, about 3 million people work in hazardous and dangerous conditions. The study of hereditary specificity in development of occupational diseases is being actively conducted through molecular genetic analysis of single-nucleotide gene polymorphisms. While studying single-nucleotide gene polymorphisms of occupational diseases, many complicated bioethical questions arise regarding the confidentiality of personal data, the choice between the profession chosen and the risk to one's own health. Complicated bioethical issues that arise when studying single-nucleotide gene polymorphisms of occupational diseases need to be actively discussed, not only by physicians, occupational pathologists, employers, scientists, but also by politicians and lawyers, taking into account ethical and social norms and implications.

Association between PD-1 single nucleotide gene variants and the risk of metastatic melanoma.

Previous studies showed an association between single nucleotide gene variants (SNVs) of PD-1 and cancer susceptibility. We analyzed PD1.5 C > T and PD1.7 T > C SNVs to investigate their association with the risk of developing metastatic melanoma (MM). Utilizing a cohort of 125 MM patients treated with anti-PD-1 agents and 84 healthy controls, we examined genotype/allele frequencies through a modified Poisson regression model, adjusted for age and sex. Our findings indicate that the PD1.5 T allele is associated with a reduced risk of MM, showing a significantly lower risk in both codominant (RR = 0.56, 95%CL: 0.37-0.87) and dominant (RR = 0.73 95%CL: 0.59-0.90) models. Conversely, the PD1.7 C allele is linked to an increased risk of MM, with the C/C genotype exhibiting a higher risk in the codominant (RR = 1.65, 95%CL: 1.32-2.05) and allelic (RR = 1.23, 95%CL: 1.06-1.43) models. These results are consistent with previous meta-analyses on other cancer types, mainly highlighting the PD1.5 SNV's potential role in promoting anti-tumor immunity through increased PD1-positive circulating effector T cell activity.

Transforming growth factor-ß1 gene polymorphism as a potential risk factor in Turkish patients with laryngeal squamous cell carcinoma.

INTRODUCTION: Laryngeal cancer is the most common head-and-neck malignancies with more than 20% of all cases. The vast majority of tumors are squamous cell carcinoma (SCC). Several genes encoding different cytokines may play crucial roles in host susceptibility to cancer because cytokine production capacity varies among individuals and depends on cytokine gene polymorphisms. MATERIALS AND METHODS: The association between cytokine gene polymorphisms with primary laryngeal SCC was investigated. DNA samples were obtained from a Turkish population of eighty patients with primary cancer and fifty healthy controls. RESULTS: All genotyping (interferon-gamma, transforming growth factor-ß1 [TGF-ß1], tumor necrosis factor-alpha [TNF-α], interleukin [IL]-6, and IL-10) experiments were performed using polymerase chain reaction sequence-specific primers. When compared to the healthy controls, the frequencies of TGF-ß1 codon 25 (rs1800471) GC genotype and 25 C allele were significantly more common in the patient group. CONCLUSIONS: These results suggest that TGF-ß1 gene polymorphisms may affect host susceptibility to laryngeal cancer.

Apolipoprotein E Gene Polymorphisms in Essential Hypertension: A Preliminary Study with Meta-analysis

Essential hypertension is a multifactorial disease. Many experimental studies have elucidated the role of oxidative stress and atherosclerosis in the pathogenesis of essential hypertension. Apolipoprotein E is a plasma protein that is found to have antioxidant properties, and it also protects against atherosclerosis. Interestingly, the biological function of apolipoprotein E is strongly affected by polymorphisms in its gene. Based on this evidence, our aim was to investigate the association of apolipoprotein E gene polymorphisms with essential hypertension. Methods: This study was conducted on 70 hypertensive patients and 73 control participants recruited from the Balok governmental health clinic in Kuantan, Pahang. The polymerase chain reaction restriction fragment length polymorphism assay (PCR-RFLP) was used for determination of the apolipoprotein E genotype. Our results were also verified later by direct sequencing of the amplicons. Results: There was no significant association of apolipoprotein E allele or genotype frequencies with hypertensive disease or blood pressure levels, although the E4 allele was slightly more frequent in the hypertensive patients than in the control group (OR=1.055; 0.471–2.359, CI 95%). To improve the precision of the study and to settle the controversies among similar studies meta-analysis was performed; however it revealed a net nonsignificant association between the apolipoprotein E4 allele with essential hypertension in the combined population. Conclusion: Our data and the meta-analysis findings provide evidence that apolipoprotein E gene polymorphism has no direct significant association with hypertension.

Relationship between adiponectin -11,377C > G Gene polymorphism and risk of coronary heart disease / 实用医学杂志

Objective To investigate the relationship between the polymorphism of adiponectin -11 ,377C> G gene and the risk of coronary heart disease(CHD). Methods A total of 126 CHD patients and 130 healthy controls were enrolled and the frequency of each genotypes and allele gene of adiponectin -11 ,377C > G were detected by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Results (1) The adiponectin gene -11,377C > G sites existed gene polymorphism and the three genotypes were GG, CG and CC. (2) There was statistical difference between CHD group and control group; The G allele frequency of CHD group was significantly higher than that in control group (P G between acute coronary syndrome (ACS) group and stable angina group . ( 4 ) The risk of CHD were increased in CHD patients with G allele gene of adiponectin-11,377C > G (P G is associated with the increased risk of CHD. The increased G allele gene frequency may represent the increased risk of CHD.